Revel Score:
ENST00000335508 (MANE Select)
0.443
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000738 (EAS)
Exomes Max Group AF
0.00000381 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.197402636T>C , CM000664.2:g.197402636T>C | GRCh38 |
| NC_000002.11:g.198267360T>C , CM000664.1:g.198267360T>C | GRCh37 |
| NC_000002.10:g.197975605T>C | NCBI36 |
| NG_032903.2:g.37412A>G , LRG_624:g.37412A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335508.11:c.1997A>G MANE Select | ENSP00000335321.6:p.Lys666Arg | |
| ENST00000470268.2:n.3881A>G | ||
| ENST00000652026.1:c.*3064A>G | ENSP00000498652.1:n.*3064A>G | |
| ENST00000652738.1:c.*2256A>G | ENSP00000499119.1:n.*2256A>G | |
| ENST00000335508.10:c.1997A>G | ENSP00000335321.5:p.Lys666Arg | |
| NM_012433.2:c.1997A>G | NP_036565.2:p.Lys666Arg | |
| NM_012433.3:c.1997A>G , LRG_624t2:c.1997A>G | NP_036565.2:p.Lys666Arg | |
| XM_011510867.1:c.1559A>G | XP_011509169.1:p.Lys520Arg | |
| XM_011510868.1:c.1559A>G | XP_011509170.1:p.Lys520Arg | |
| XR_241300.2:n.2089A>G | ||
| XR_001738680.2:n.2042A>G | ||
| NM_012433.4:c.1997A>G MANE Select | NP_036565.2:p.Lys666Arg |